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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1950 1
1957 1
1962 1
1963 1
1964 1
1966 1
1969 4
1970 2
1971 3
1972 2
1973 1
1974 3
1975 1
1976 3
1977 2
1978 4
1979 7
1980 10
1981 11
1982 4
1983 5
1984 5
1985 5
1986 6
1987 5
1988 1
1989 5
1990 2
1991 3
1992 3
1993 1
1994 2
1995 7
1996 9
1997 8
1998 6
1999 6
2000 14
2001 14
2002 10
2003 10
2004 19
2005 25
2006 35
2007 25
2008 34
2009 39
2010 35
2011 55
2012 57
2013 54
2014 42
2015 42
2016 42
2017 37
2018 45
2019 55
2020 50
2021 51
2022 41
2023 48
2024 11

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942 results

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Page 1
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Chao KR, Wang L, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M; gnomAD Consortium; Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. Chao KR, et al. Among authors: daly mj. bioRxiv [Preprint]. 2024 May 3:2024.04.11.588920. doi: 10.1101/2024.04.11.588920. bioRxiv. 2024. PMID: 38645134 Free PMC article. Preprint.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Urpa L, Kurki MI, Rahikkala E, Hämäläinen E, Salomaa V, Suvisaari J, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Uusimaa J, Moilanen JS, Körkkö J, Singh T, Kuismin O, Pietiläinen O, Palotie A, Daly MJ. Urpa L, et al. Among authors: daly mj. Eur J Hum Genet. 2024 May;32(5):576-583. doi: 10.1038/s41431-024-01581-3. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467730 Free PMC article.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: daly mj. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes.
Elliott A, Walters RK, Pirinen M, Kurki M, Junna N, Goldstein JI, Reeve MP, Siirtola H, Lemmelä SM, Turley P, Lahtela E, Mehtonen J, Reis K, Elnahas AG, Reigo A, Palta P, Esko T, Mägi R; Estonian Biobank Research Team; FinnGen; Palotie A, Daly MJ, Widén E. Elliott A, et al. Among authors: daly mj. Nat Genet. 2024 Mar;56(3):377-382. doi: 10.1038/s41588-023-01607-4. Epub 2024 Jan 5. Nat Genet. 2024. PMID: 38182742 Free PMC article.
CR1 variants contribute to FSGS susceptibility across multiple populations.
Skitchenko R, Modrusan Z, Loboda A, Kopp JB, Winkler CA, Sergushichev A, Gupta N, Stevens C, Daly MJ, Shaw A, Artomov M. Skitchenko R, et al. Among authors: daly mj. medRxiv [Preprint]. 2023 Nov 20:2023.11.20.23298462. doi: 10.1101/2023.11.20.23298462. medRxiv. 2023. PMID: 38076851 Free PMC article. Preprint.
942 results